Literature DB >> 16356446

Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx.

Yoshiaki Miura1, Stacey K H Tay, Marion M Aw, Erik A Eklund, Hudson H Freeze.   

Abstract

We describe a case of congenital disorder of glycosylation with chronic diarrhea, progressive liver cirrhosis, and recurrent infections. Transferrin analysis showed only hyposialylation, but analysis of total serum N-glycans indicated loss of additional sugars, arguing that the latter generates a more informative picture to search for the primary defect.

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Year:  2005        PMID： 16356446     DOI： 10.1016/j.jpeds.2005.07.038

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  8 in total

1.  Identification of the first COG-CDG patient of Indian origin.

Authors:  Bobby G Ng; Vandana Sharma; Liangwu Sun; Eva Loh; Wanjin Hong; Stacey K H Tay; Hudson H Freeze
Journal:  Mol Genet Metab       Date:  2010-11-24       Impact factor: 4.797

Review 2.  Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Authors:  D Marques-da-Silva; V Dos Reis Ferreira; M Monticelli; P Janeiro; P A Videira; P Witters; J Jaeken; D Cassiman
Journal:  J Inherit Metab Dis       Date:  2017-01-20       Impact factor: 4.982

Review 3.  Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.

Authors:  Dusica Babovic-Vuksanovic; John F O'Brien
Journal:  Mol Diagn Ther       Date:  2007       Impact factor: 4.074

4.  A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Authors:  Carlos R Ferreira; Zhi-Jie Xia; Aurélie Clément; David A Parry; Mariska Davids; Fulya Taylan; Prashant Sharma; Coleman T Turgeon; Bernardo Blanco-Sánchez; Bobby G Ng; Clare V Logan; Lynne A Wolfe; Benjamin D Solomon; Megan T Cho; Ganka Douglas; Daniel R Carvalho; Heiko Bratke; Marte Gjøl Haug; Jennifer B Phillips; Jeremy Wegner; Michael Tiemeyer; Kazuhiro Aoki; Ann Nordgren; Anna Hammarsjö; Angela L Duker; Luis Rohena; Hanne Buciek Hove; Jakob Ek; David Adams; Cynthia J Tifft; Tito Onyekweli; Tara Weixel; Ellen Macnamara; Kelly Radtke; Zöe Powis; Dawn Earl; Melissa Gabriel; Alvaro H Serrano Russi; Lauren Brick; Mariya Kozenko; Emma Tham; Kimiyo M Raymond; John A Phillips; George E Tiller; William G Wilson; Rizwan Hamid; May C V Malicdan; Gen Nishimura; Giedre Grigelioniene; Andrew Jackson; Monte Westerfield; Michael B Bober; William A Gahl; Hudson H Freeze
Journal:  Am J Hum Genet       Date:  2018-10-04       Impact factor: 11.025

Review 5.  Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

Authors:  Peter T A Linders; Ella Peters; Martin Ter Beest; Dirk J Lefeber; Geert van den Bogaart
Journal:  Int J Mol Sci       Date:  2020-06-30       Impact factor: 5.923

Review 6.  Membrane trafficking in health and disease.

Authors:  Rebecca Yarwood; John Hellicar; Philip G Woodman; Martin Lowe
Journal:  Dis Model Mech       Date:  2020-04-30       Impact factor: 5.758

7.  Congenital protein hypoglycosylation diseases.

Authors:  Susan E Sparks
Journal:  Appl Clin Genet       Date:  2012-07-05

8.  COG6-CDG: Novel variants and novel malformation.

Authors:  Lara Cirnigliaro; Paolo Bianchi; Luisa Sturiale; Domenico Garozzo; Giovanna Mangili; Liesbeth Keldermans; Renata Rizzo; Gert Matthijs; Agata Fiumara; Jaak Jaeken; Rita Barone
Journal:  Birth Defects Res       Date:  2022-01-23       Impact factor: 2.661
  8 in total

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